サイトウ　カヨコ   Saito Kayoko   齋藤　加代子    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
掲載誌名	正式名：Pediatric neurology 略　 称：Pediatr Neurol ISSNコード：18735150/08878994
掲載区分	国外
巻・号・頁	146,pp.16-20
著者・共著者	Uneoka Saki, Kobayashi Tomoko, Numata-Uematsu Yurika, Oikawa Yoshitsugu, Katata Yu, Okubo Yukimune, Abe Yu, Kikuchi Atsuo, Takayama Jun, Tamiya Gen, Kure Shigeo, Saito Kayoko, Uematsu Mitsugu
発行年月	2023/06
概要	Myosin-binding protein C1 (MYBPC1) encodes myosin-binding protein C, slow type (sMyBP-C), an accessory protein that regulates actomyosin cross-linking, stabilizes thick filaments, and modulates contractility in muscle sarcomeres and has recently been linked to myopathy with tremor. The clinical features of MYBPC1 mutations manifesting in early childhood bear some similarities to those of spinal muscular atrophy (SMA), such as hypotonia, involuntary movement of the tongue and limbs, and delayed motor development. The development of novel therapies for SMA has necessitated the importance of differentiating SMA from other diseases in the early infancy period. We report the characteristic tongue movements of MYBPC1 mutations, along with other clinical findings, such as positive deep tendon reflexes and normal peripheral nerve conduction velocity testing, which could help in considering other diseases as differential diagnoses.
DOI	10.1016/j.pediatrneurol.2023.06.002
PMID	37392669